I'll just make a small note here and say that while we may have this very rare and awful disease, it is great to know that there are so many people working on finding treatments and a cure for us ~ Allyson
Enzyme Replacement Therapy
Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care.
The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation.
Current treatments available:
Myozyme (Alglucosidase alfa). In the United States this drug is known as Lumizyme Nexviazyme (Avalglucosidase alfa) Pombiliti (cipaglucosidase alfa-atga) + Opfolda (miglustat)
Gene Therapy
As quoted from the AMDA website:
"Gene therapy will eventually be the cure for Pompe disease and other rare disorders. But until this dream is realized, enzyme replacement therapy offers hope in the near future for those affected by the devastation of Pompe disease".